Variant report

Variant	nsv948143
Chromosome Location	chr10:95717763-95721419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:366)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:95718613-95718799	HepG2	liver:	n/a	chr10:95718706-95718717
2	CTCF	chr10:95719196-95719258	GM13976	blood:	n/a	n/a
3	HEY1	chr10:95721415-95721614	HepG2	liver:	n/a	n/a
4	MYC	chr10:95719429-95719440	MCF-7	breast:	n/a	n/a
5	MYC	chr10:95719355-95719520	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:95721396-95721656	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:95719300-95719304	MCF-7	breast:	n/a	n/a
8	POLR2A	chr10:95719114-95719225	Gliobla	brain:	n/a	n/a
9	POLR2A	chr10:95719084-95719110	Gliobla	brain:	n/a	n/a
10	POLR2A	chr10:95719330-95719566	Gliobla	brain:	n/a	n/a
11	POLR2A	chr10:95721411-95721536	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:95719317-95719329	Gliobla	brain:	n/a	n/a
13	POLR2A	chr10:95721413-95721720	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr10:95719307-95719521	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:95719304-95719504	MCF-7	breast:	n/a	n/a
16	SPI1	chr10:95720024-95720246	GM12891	blood:	n/a	n/a
17	SPI1	chr10:95719948-95720277	GM12891	blood:	n/a	n/a
18	SPI1	chr10:95720062-95720199	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:95720654-95720704	Caco-2	colon:	n/a
2	chr10:95720654-95720704	AG04449	skin:	fetal
3	chr10:95721252-95721302	HCF	heart:	n/a
4	chr10:95721181-95721231	GM12891	blood:	n/a
5	chr10:95720748-95720798	AG09309	skin:	n/a
6	chr10:95721318-95721368	ovcar-3	ovarian:	n/a
7	chr10:95720710-95720760	LNCaP	prostate:	n/a
8	chr10:95721252-95721302	HCM	heart:	n/a
9	chr10:95721318-95721368	HEK293	kidney:	embryo
10	chr10:95721181-95721231	GM06990	blood:	n/a
11	chr10:95720748-95720798	SKMC	muscle:	n/a
12	chr10:95720748-95720798	HL-60	blood:	n/a
13	chr10:95720710-95720760	PANC-1	pancreas:	n/a
14	chr10:95720748-95720798	U87	brain:	n/a
15	chr10:95721181-95721231	AG04450	lung:	fetal
16	chr10:95721181-95721231	RPTEC	kidney:	n/a
17	chr10:95721318-95721368	NB4	blood:	n/a
18	chr10:95720710-95720760	ProgFib	skin:	n/a
19	chr10:95720748-95720798	SAEC	small airway:	n/a
20	chr10:95720710-95720760	HCF	heart:	n/a
21	chr10:95720654-95720704	MCF10A-Er-Src	breast:	n/a
22	chr10:95720748-95720798	Jurkat	blood:	n/a
23	chr10:95721252-95721302	T-47D	breast:	n/a
24	chr10:95720748-95720798	AG04450	lung:	fetal
25	chr10:95721252-95721302	LNCaP	prostate:	n/a
26	chr10:95720654-95720704	NHBE	bronchial:	n/a
27	chr10:95720710-95720760	NHBE	bronchial:	n/a
28	chr10:95720710-95720760	Hela-S3	cervix:	n/a
29	chr10:95720710-95720760	AG09309	skin:	n/a
30	chr10:95720710-95720760	HUVEC	blood vessel:	n/a
31	chr10:95721181-95721231	NB4	blood:	n/a
32	chr10:95721252-95721302	SK-N-MC	brain:	n/a
33	chr10:95720710-95720760	A549	lung:	n/a
34	chr10:95721252-95721302	NH-A	brain:	n/a
35	chr10:95721252-95721302	AG04450	lung:	fetal
36	chr10:95721318-95721368	HAEpiC	amniotic membrane:	n/a
37	chr10:95720710-95720760	T-47D	breast:	n/a
38	chr10:95720710-95720760	MCF10A-Er-Src	breast:	n/a
39	chr10:95721181-95721231	GM12878	blood:	n/a
40	chr10:95721181-95721231	MCF10A-Er-Src	breast:	n/a
41	chr10:95720654-95720704	CMK	blood:	n/a
42	chr10:95720748-95720798	Hela-S3	cervix:	n/a
43	chr10:95721252-95721302	GM12891	blood:	n/a
44	chr10:95720654-95720704	HEEpiC	esophagus:	n/a
45	chr10:95721181-95721231	HAEpiC	amniotic membrane:	n/a
46	chr10:95720748-95720798	RPTEC	kidney:	n/a
47	chr10:95721181-95721231	HL-60	blood:	n/a
48	chr10:95721318-95721368	SK-N-MC	brain:	n/a
49	chr10:95720710-95720760	AG09319	gingival:	n/a
50	chr10:95720654-95720704	U87	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:95715381..95717927-chr10:95718850..95721195,2	K562	blood:
2	chr1:151170947..151171577-chr10:95720817..95721593,2	Hela-S3	cervix:
3	chr1:151170127..151171898-chr10:95720093..95723081,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIPSL	TF binding region
PIPSL	CpG island
ENSG00000143398	chromatin interactions
ENSG00000180764	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201540983	chr10:95717765-95717766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576136376	chr10:95717783-95717784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114401150	chr10:95717785-95717786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34964138	chr10:95717819-95717820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577661740	chr10:95717836-95717837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533262518	chr10:95717841-95717842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34186053	chr10:95717866-95717867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540187598	chr10:95717907-95717908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560307165	chr10:95717947-95717948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12768993	chr10:95718037-95718038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs78760768	chr10:95718090-95718091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569559887	chr10:95718128-95718129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531936221	chr10:95718139-95718140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55640718	chr10:95718145-95718146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74357229	chr10:95718148-95718149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34978710	chr10:95718167-95718168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571317991	chr10:95718234-95718235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78953916	chr10:95718241-95718242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181119103	chr10:95718248-95718249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59131203	chr10:95718300-95718301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536273407	chr10:95718321-95718322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139957532	chr10:95718351-95718352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540508391	chr10:95718356-95718357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113072949	chr10:95718364-95718365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370138833	chr10:95718367-95718368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563705611	chr10:95718369-95718370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376264393	chr10:95718373-95718374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150738357	chr10:95718402-95718403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538406630	chr10:95718406-95718407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144856313	chr10:95718413-95718414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375409881	chr10:95718417-95718418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76482253	chr10:95718420-95718421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373180658	chr10:95718421-95718422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577686150	chr10:95718425-95718426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184777856	chr10:95718429-95718430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1134901	chr10:95718433-95718434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs829225	chr10:95718474-95718475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573926639	chr10:95718513-95718514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369387010	chr10:95718515-95718516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543052827	chr10:95718551-95718552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563028574	chr10:95718582-95718583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11815169	chr10:95718600-95718601	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139082662	chr10:95718644-95718645	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565497483	chr10:95718655-95718656	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs200784948	chr10:95718664-95718665	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201959756	chr10:95718704-95718705	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201198304	chr10:95718736-95718737	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs116953357	chr10:95718754-95718755	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188828922	chr10:95718833-95718834	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556159275	chr10:95718888-95718889	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95703200-95721800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr10:95707400-95722800	Weak transcription	Fetal Stomach	stomach
3	chr10:95707800-95725600	Weak transcription	Ovary	ovary
4	chr10:95708400-95720800	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:95711800-95718600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:95712200-95725600	Weak transcription	Spleen	Spleen
7	chr10:95715000-95718400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:95715000-95723000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:95715400-95719200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:95717400-95718600	Weak transcription	Psoas Muscle	Psoas
11	chr10:95718000-95718600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr10:95718000-95719600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr10:95718200-95724400	Weak transcription	Right Atrium	heart
14	chr10:95718600-95719000	Strong transcription	Fetal Intestine Small	intestine
15	chr10:95718600-95719000	Enhancers	Psoas Muscle	Psoas
16	chr10:95718600-95719000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:95719000-95719600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:95719000-95728400	Weak transcription	Fetal Intestine Small	intestine
19	chr10:95719400-95719600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:95719600-95720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:95719600-95728400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:95720800-95721000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:95720800-95721200	Enhancers	Fetal Muscle Leg	muscle
24	chr10:95721000-95727400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:95721200-95721600	Enhancers	Fetal Muscle Trunk	muscle
26	chr10:95721200-95721600	Active TSS	HUVEC	blood vessel
27	chr10:95721200-95722800	Weak transcription	Fetal Muscle Leg	muscle

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